The Global Society of Rare Genitourinary Tumors (GSRGT) launched during the pandemic, hoping to give a voice to those who have or treat rare cancers in this space. In a recent interview, Philippe E. Spiess, MD, MS, FRCSC, FACS, and Andrea Necchi, MD, share how they aim to develop an environment that emphasizes education, patient […]
Lack of isolation: Mutations in the MYT1L gene deactivate a transcription factor that is important for myelin-forming cells that coat nerve fibers. Biophoto Associates / Science Source A variety of traits, including developmental delay and intellectual disability, characterize people with mutations in the autism-related MYT1L gene, according to a new study. The gene encodes a […]
Zodiac Signs: Astrocytes from people with Pitt-Hopkins syndrome (center) show high levels of a green marker that is normally only seen in immature cells. After gene therapy (right) the cells show more of a mature cell marker, in purple, similar to control astrocytes (left) Andrea (Julieth) Sierra Delgado Increased expression of the gene, which is […]
Exhale: In mice with a mutated copy of the TCF4 gene (right), nerve cells (pink) are in short supply compared to controls (left). Courtesy Daniel Mulkey The breathing difficulties in children with Pitt-Hopkins syndrome, a rare form of autism, stem from dysfunctional circuitry and a malignant sodium channel in the brain stem, according to a […]
Genetic burden: Autistic people who carry rare mutations (three middle bars) have a greater burden than non-autistic people (left bar), but a lower burden than autistic people who lack such mutations (right bar). About one in four people with autism carry rare genetic mutations in genes strongly related to autism or other neurodevelopmental disorders far […]
Early maturity: Compared to wild-type mouse neurons (left), those in mice with a mutation in the MYT1L gene (right) mature before they can reproduce, which leads to an above-average brain. Courtesy of Jiayang Chen, Mary Lambo, Dora Tabachnick / Washington University St. Louis Mice with a mutated copy of MYT1L, a leading autism candidate gene, […]
A new beginning with challengesOliver returned to Roanoke County public school on the Monday after the spring break. His mother said the first three days went well, but by Thursday Oliver was overwhelmed. At Hidden Valley Middle School, students with autism de-escalate and take a break from the classroom in a padded wrestling room. But […]
Earlier this month, researchers reported unpublished preliminary results from a pilot drug study for ADNP syndrome, a rare genetic disorder often accompanied by autism. During the nearly one-year study, 10 children, ages 6 to 12, took a low dose of ketamine. The drug is approved for the treatment of depression and is used in higher […]
